HAE
MCID: HRD002
MIFTS: 57

Hereditary Angioedema (HAE)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Angioedema

MalaCards integrated aliases for Hereditary Angioedema:

Name: Hereditary Angioedema 12 77 54 26 38 6 15
Hereditary Angioneurotic Edema 12 54 26
Hane 12 54 26
Angioedemas, Hereditary 45 74
Angioedema, Hereditary 54 56
Hae 54 26
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 74
Hereditary Angioedema Types I and Ii 74
Deficiency of C1 Esterase Inhibitor 54
C1 Esterase Inhibitor Deficiency 26
Hereditary Angioedema Type 1 54
C1 Inhibitor Deficiency 26

Classifications:



External Ids:

Disease Ontology 12 DOID:14735
KEGG 38 H01006
MeSH 45 D054179
NCIt 51 C84758
SNOMED-CT 69 82966003

Summaries for Hereditary Angioedema

NIH Rare Diseases : 54 Hereditary angioedema (HAE) is a disease characterized by recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes. The age at which attacks begin varies, but most people have their first one in childhood or adolescence. The frequency of attacks usually increases after puberty. Attacks most often affect 3 parts of the body:Skin - the most common sites are the face (such as the lips and eyes), hands, arms, legs, genitals, and buttocks. Skin swelling can cause pain, dysfunction, and disfigurement, although it is generally not dangerous and is temporary. Gastrointestinal tract - the stomach, intestines, bladder, and/or urethra may be involved. This may cause symptoms such as nausea, vomiting, diarrhea, and abdominal pain. Upper airway (such as the larynx and tongue) - this can cause upper airway obstruction and may be life-threatening. The majority of attacks affecting the airway resolve before complete airway obstruction. Attacks may involve one area of the body at a time, or they may involve a combination of areas. They always go away on their own but last from 2 to 4 days. While people with HAE have reported various triggers of attacks, emotional stress, physical stress, and dental procedures are the most commonly reported triggers. There are several types of HAE. Types I and II are caused by mutations in the C1NH gene (also called the SERPING1 gene), which provides instructions for making the C1 inhibitor protein. Type I is due to deficiency of C1 inhibitor, and type II is due to dysfunction of C1 inhibitor. These types are also characterized by abnormal complement protein levels. Inheritance of types I and II is autosomal dominant, but not all people with a SERPING1 gene mutation will develop symptoms of HAE. A third type is called HAE with normal C1 inhibitor. This type is characterized by normal C1 inhibitor and normal complement protein levels, and usually begins in adulthood. While some cases of type III are due to mutations in the F12 gene, in other cases the cause is not yet known. The inheritance of this form is also thought to be autosomal dominant. Management of HAE involves treatment of sudden (acute) attacks and preventing attacks (prophylaxis). Treatment for acute attacks in types I and II includes replacement with C1 inhibitor concentrates, a kallikrein inhibitor, or fresh-frozen plasma (by infusion). Sudden attacks involving the upper airway may involve intubation if stridor or signs of respiratory distress are present. HAE with normal C1 inhibitor levels is treated similarly, however C1 inhibitor infusion is not effective. Prophylaxis may involve regular injections of C1 inhibitor concentrates, long-term androgen (male hormone) therapy, or antifibrinolytics. The long-term outlook varies depending on the frequency and location of attacks, and the severity of attacks in each person. Attacks generally continue throughout life, but the frequency of attacks can be significantly reduced with therapy.

MalaCards based summary : Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, type i and c1 inhibitor deficiency. An important gene associated with Hereditary Angioedema is SERPING1 (Serpin Family G Member 1), and among its related pathways/superpathways are Complement and coagulation cascades and Creation of C4 and C2 activators. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are angioedema and ascites

Genetics Home Reference : 26 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

Wikipedia : 77 Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling. The... more...

Related Diseases for Hereditary Angioedema

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii
Hereditary Angioedema Acquired Angioedema
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Hereditary Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, type i 33.5 F12 SERPING1
2 c1 inhibitor deficiency 30.8 BDKRB2 C1S KLKB1 KNG1 MASP2 SERPING1
3 acquired angioedema 30.6 C1S SERPING1
4 urticaria 30.4 C1S F12 SERPING1
5 angioedema 30.2 ACE BDKRB2 C1S F12 KLKB1 KNG1
6 allergic urticaria 30.0 KNG1 SERPING1
7 melkersson-rosenthal syndrome 29.9 ACE SERPING1
8 hereditary angioedema with normal c1inh 12.4
9 angioedema, hereditary, type iii 12.3
10 hereditary angioedema with c1inh deficiency 12.3
11 acquired angioedema with c1inh deficiency 11.3
12 frasier syndrome 11.2
13 complement component 4, partial deficiency of 10.8
14 pancreatitis 10.3
15 lupus erythematosus 10.2
16 vasculitis 10.2
17 acute pancreatitis 10.2
18 anxiety 10.1
19 arthritis 10.1
20 lymphoma 10.1
21 lymphoproliferative syndrome 10.1
22 glomerulonephritis 10.1
23 compartment syndrome 10.1
24 leukemia, chronic lymphocytic 2 10.1
25 leukemia, chronic lymphocytic 10.1
26 myelofibrosis 10.1
27 leukemia 10.1
28 splenic marginal zone lymphoma 10.1
29 angioimmunoblastic t-cell lymphoma 10.1
30 lymphocytic leukemia 10.1
31 peritonitis 10.1
32 leukemia, b-cell, chronic 10.1
33 coproporphyria, hereditary 10.1
34 aging 10.1
35 charcot-marie-tooth disease 10.1
36 lymphedema 10.1
37 hereditary lymphedema 10.1
38 tooth disease 10.1
39 leiomyoma 10.1
40 cystitis 10.1
41 spondylarthropathy 10.1
42 immunodeficiency due to a classical component pathway complement deficiency 10.0 C1S C4B
43 louse-borne relapsing fever 10.0 C4B SERPING1
44 hepatocellular carcinoma 10.0
45 intussusception 10.0
46 systemic lupus erythematosus 10.0
47 celiac disease 1 10.0
48 helicobacter pylori infection 10.0
49 immunoglobulin alpha deficiency 10.0
50 purpura 10.0

Graphical network of the top 20 diseases related to Hereditary Angioedema:



Diseases related to Hereditary Angioedema

Symptoms & Phenotypes for Hereditary Angioedema

Human phenotypes related to Hereditary Angioedema:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 angioedema 33 hallmark (90%) HP:0100665
2 ascites 33 occasional (7.5%) HP:0001541
3 abdominal pain 33 occasional (7.5%) HP:0002027
4 intestinal obstruction 33 occasional (7.5%) HP:0005214
5 facial edema 33 occasional (7.5%) HP:0000282
6 intestinal edema 33 occasional (7.5%) HP:0005225
7 laryngeal edema 33 occasional (7.5%) HP:0012027

MGI Mouse Phenotypes related to Hereditary Angioedema:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 ACE BDKRB2 C4B KLKB1 MASP2 SERPING1

Drugs & Therapeutics for Hereditary Angioedema

Drugs for Hereditary Angioedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 130308-48-4, 138614-30-9 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
4
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
5
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
6 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
9 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
10 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
12 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
13 Vasodilator Agents Phase 4,Phase 3,Phase 1
14 Kininogens Phase 4,Phase 3,Phase 1
15 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
17 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
19 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
20 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
21 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
22 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
23 Immunoglobulins Phase 4,Phase 2,Phase 1
24 Antibodies Phase 4,Phase 2,Phase 1
25 Respiratory System Agents Phase 4
26 Anti-Allergic Agents Phase 4
27 Anti-Asthmatic Agents Phase 4
28 gamma-Globulins Phase 4
29 Immunoglobulins, Intravenous Phase 4
30 Rho(D) Immune Globulin Phase 4
31 Ecallantide Approved, Investigational Phase 3,Phase 2 460738-38-9
32
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
33
tannic acid Approved Phase 3 1401-55-4
34
Tranexamic Acid Approved Phase 3 1197-18-8 5526
35 Pharmaceutical Solutions Phase 3,Phase 2
36 Coagulants Phase 3,Phase 2
37 Fibrinolytic Agents Phase 3,Not Applicable
38 Antifibrinolytic Agents Phase 3
39 Hemostatics Phase 3
40 Kallikreins Phase 3,Phase 2,Phase 1
41 Plasma Kallikrein Phase 3,Phase 2,Phase 1
42 Passionflower Phase 3
43
Danazol Approved Phase 2 17230-88-5 28417
44 Hormones Phase 2,Phase 1
45 Hormone Antagonists Phase 2,Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
47 Estrogen Antagonists Phase 2
48 Estrogen Receptor Antagonists Phase 2
49 Selective Estrogen Receptor Modulators Phase 2
50 Estrogen Receptor Modulators Phase 2

Interventional clinical trials:

(show top 50) (show all 89)
# Name Status NCT ID Phase Drugs
1 A Call Center During HAE Attacks (SOS HAE) Completed NCT01679912 Phase 4
2 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
3 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
4 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
5 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
6 A Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
7 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
8 A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT01912456 Phase 3
9 A Study of Icatibant for Acute Attacks of Hereditary Angioedema in Japanese Participants Completed NCT03888755 Phase 3 Icatibant
10 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
11 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
12 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
13 Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
14 Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
15 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
16 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
17 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT02316353 Phase 3
18 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
19 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
20 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
21 Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
22 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
23 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
24 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
25 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
26 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
27 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
28 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
29 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
30 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
31 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
32 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
33 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
34 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
35 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
36 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
37 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
38 Study to Evaluate the Efficacy and Safety of BCX7353 as an Oral Treatment for the Prevention of HAE Attacks in Japan Recruiting NCT03873116 Phase 3 BCX7353 capsules;BCX7353 capsules;Placebo oral capsule
39 Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
40 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Active, not recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
41 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
42 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
43 Study to Assess the Tolerability and Safety of Ecallantide in Children and Adolescents With Hereditary Angioedema Unknown status NCT01832896 Phase 2 Ecallantide subcutaneous dosing
44 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
45 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
46 Safety of Ruconest in 2-13 Year Old Hereditary Angioedema (HAE) Patients Completed NCT01359969 Phase 2 rhC1INH
47 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
48 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
49 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
50 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2

Search NIH Clinical Center for Hereditary Angioedema

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: angioedemas, hereditary

Genetic Tests for Hereditary Angioedema

Anatomical Context for Hereditary Angioedema

MalaCards organs/tissues related to Hereditary Angioedema:

42
Skin, Tongue, Eye, Endothelial, Testes, Liver, Colon

Publications for Hereditary Angioedema

Articles related to Hereditary Angioedema:

(show top 50) (show all 1330)
# Title Authors Year
1
Hereditary angioedema in Austria: prevalence and regional peculiarities. ( 30883006 )
2019
2
Anesthetic Management of a Patient With Hereditary Angioedema for Oral Surgery. ( 30883234 )
2019
3
Serum fetuin-A, tumor necrosis factor alpha and C-reactive protein concentrations in patients with hereditary angioedema with C1-inhibitor deficiency. ( 30885236 )
2019
4
Indirect comparison of intravenous vs. subcutaneous C1-inhibitor placebo-controlled trials for routine prevention of hereditary angioedema attacks. ( 30899278 )
2019
5
Reporting through smartphone application results in detailed data on acquired and hereditary angioedema attacks. ( 30908664 )
2019
6
Current and emerging biologics for the treatment of hereditary angioedema. ( 30912460 )
2019
7
Management of patients with hereditary angioedema in Germany: comparison with other countries in the Icatibant Outcome Survey. ( 30176179 )
2019
8
Training patients for self-administration of a new subcutaneous C1-inhibitor concentrate for hereditary angioedema. ( 30534402 )
2019
9
Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies. ( 30539362 )
2019
10
New and evolving therapies for hereditary angioedema. ( 30582490 )
2019
11
Hereditary angioedema: Linking complement regulation to the coagulation system. ( 30656274 )
2019
12
Treatment Effect of Switching from Intravenous to Subcutaneous C1-inhibitor for Prevention of Hereditary Angioedema Attacks: COMPACT Subgroup Findings. ( 30660873 )
2019
13
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema. ( 30689269 )
2019
14
Delayed Diagnosis of Hereditary Angioedema with C1-inhibitor Deficiency in Iranian Children and Adolescents. ( 30690789 )
2019
15
Oxidative stress markers in patients with hereditary angioedema. ( 30697258 )
2019
16
The Effectiveness and Value of Lanadelumab and C1 Esterase Inhibitors for Prophylaxis of Hereditary Angioedema Attacks. ( 30698087 )
2019
17
Cost-Effectiveness of Prophylactic Medications for the Treatment of Hereditary Angioedema Due to C1 Inhibitor Deficiency: A Real-World U.S. Perspective. ( 30698094 )
2019
18
Is hereditary angioedema related to an increased risk of atherosclerosis? ( 30711037 )
2019
19
C1-INH concentrate for prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. ( 30717879 )
2019
20
Hereditary angioedema: Repeated attacks in a 10-year-old boy. ( 30734432 )
2019
21
Laryngeal Edema in a Child with Hereditary Angioedema with Normal C1 Inhibitor. ( 30770337 )
2019
22
Long-term outcomes with subcutaneous C1-inhibitor replacement therapy for prevention of hereditary angioedema attacks. ( 30772477 )
2019
23
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema. ( 30809376 )
2019
24
Clinical profile and quality of life of Puerto Ricans with hereditary angioedema. ( 30819279 )
2019
25
Hereditary Angioedema may be associated with the development of Fatty liver. ( 30825607 )
2019
26
Hereditary angioedema: a Chinese perspective. ( 30827947 )
2019
27
Chronic spontaneous urticaria and angioedema requiring treatment with omalizumab in a patient with hereditary angioedema. ( 30831259 )
2019
28
Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema. ( 30847342 )
2019
29
Health-Related Quality-of-Life with Subcutaneous C1-inhibitor for Prevention of Attacks of Hereditary Angioedema. ( 29391286 )
2018
30
Efficacy of C1Inhibitor concentrate in hereditary angioedema with C1Inhibitor deficiency: analysis in the French Cohort. ( 29964227 )
2018
31
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. ( 29513108 )
2018
32
Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease. ( 29423395 )
2018
33
Canadian Physician Survey on the Medical Management of Hereditary Angioedema. ( 29958877 )
2018
34
A transcriptomics study of hereditary angioedema attacks. ( 29729940 )
2018
35
Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema. ( 29866145 )
2018
36
Evaluating satisfaction of patients with hereditary angioedema with their past and present treatments: Implications for future therapies. ( 29279063 )
2018
37
Evaluation of avoralstat, an oral kallikrein inhibitor, in a Phase 3 hereditary angioedema prophylaxis trial: The OPuS-2A study. ( 29688579 )
2018
38
Hereditary Angioedema with Normal C1 Inhibitor: Four Types and Counting. ( 29410040 )
2018
39
Exposure-Response Model of Subcutaneous C1-Inhibitor Concentrate to Estimate the Risk of Attacks in Patients With Hereditary Angioedema. ( 29316335 )
2018
40
Impaired Endothelial Function in Hereditary Angioedema During the Symptom-Free Period. ( 29867566 )
2018
41
Plasminogen gene mutation with normal C1Inhibitor-hereditary angioedema: Three additional French families. ( 29952006 )
2018
42
SERPING1 and F12 combined variants in a hereditary angioedema family<sup>,,a9^a9^a9^,a9^a9^a9^a9^</sup>. ( 29885370 )
2018
43
Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. ( 29439936 )
2018
44
Update on the Use of C1-Esterase Inhibitor Replacement Therapy in the Acute and Prophylactic Treatment of Hereditary Angioedema. ( 29909591 )
2018
45
Clinical Features of Hereditary Angioedema in Korean Patients: A Nationwide Multicenter Study. ( 29694969 )
2018
46
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. ( 29753808 )
2018
47
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years. ( 29757016 )
2018
48
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update. ( 29318628 )
2018
49
Hereditary Angioedema, Clinical Presentation and Socio-Economic Cost of 200 French Patients. ( 29936190 )
2018
50
Investigational drugs in phase I and phase II clinical trials for hereditary angioedema. ( 29226721 )
2018

Variations for Hereditary Angioedema

ClinVar genetic disease variations for Hereditary Angioedema:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.-4T> C single nucleotide variant Benign rs1801020 GRCh37 Chromosome 5, 176836532: 176836532
2 F12 NM_000505.3(F12): c.-4T> C single nucleotide variant Benign rs1801020 GRCh38 Chromosome 5, 177409531: 177409531
3 SERPING1 NM_000062.2(SERPING1): c.352A> G (p.Thr118Ala) single nucleotide variant Likely benign rs200534715 GRCh37 Chromosome 11, 57367652: 57367652
4 SERPING1 NM_000062.2(SERPING1): c.352A> G (p.Thr118Ala) single nucleotide variant Likely benign rs200534715 GRCh38 Chromosome 11, 57600179: 57600179
5 SERPING1 NM_000062.2(SERPING1): c.686-9T> C single nucleotide variant Likely benign rs141593943 GRCh37 Chromosome 11, 57373474: 57373474
6 SERPING1 NM_000062.2(SERPING1): c.686-9T> C single nucleotide variant Likely benign rs141593943 GRCh38 Chromosome 11, 57606001: 57606001
7 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh37 Chromosome 5, 176830627: 176830627
8 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh38 Chromosome 5, 177403626: 177403626
9 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh37 Chromosome 5, 176831826: 176831826
10 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh38 Chromosome 5, 177404825: 177404825
11 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh37 Chromosome 11, 57381989: 57381989
12 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh38 Chromosome 11, 57614516: 57614516
13 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh38 Chromosome 5, 177397849: 177397849
14 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh37 Chromosome 5, 176824850: 176824850
15 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh38 Chromosome 5, 177398085: 177398085
16 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh37 Chromosome 5, 176825086: 176825086
17 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh37 Chromosome 5, 176831185: 176831185
18 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh38 Chromosome 5, 177404184: 177404184
19 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh37 Chromosome 5, 176831815: 176831815
20 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh38 Chromosome 5, 177404814: 177404814
21 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh37 Chromosome 5, 176832198: 176832198
22 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh38 Chromosome 5, 177405197: 177405197
23 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh37 Chromosome 5, 176836553: 176836553
24 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh38 Chromosome 5, 177409552: 177409552
25 F12; SLC34A1 NM_003052.4(SLC34A1): c.1635C> T (p.Gly545=) single nucleotide variant Benign rs7379524 GRCh38 Chromosome 5, 177398001: 177398001
26 F12; SLC34A1 NM_003052.4(SLC34A1): c.1635C> T (p.Gly545=) single nucleotide variant Benign rs7379524 GRCh37 Chromosome 5, 176825002: 176825002
27 F12; SLC34A1 NM_003052.4(SLC34A1): c.*202A> C single nucleotide variant Benign rs6556319 GRCh38 Chromosome 5, 177398488: 177398488
28 F12; SLC34A1 NM_003052.4(SLC34A1): c.*202A> C single nucleotide variant Benign rs6556319 GRCh37 Chromosome 5, 176825489: 176825489
29 F12; SLC34A1 NM_000505.3(F12): c.1299C> T (p.Asn433=) single nucleotide variant Likely benign rs17876033 GRCh38 Chromosome 5, 177403569: 177403569
30 F12; SLC34A1 NM_000505.3(F12): c.1299C> T (p.Asn433=) single nucleotide variant Likely benign rs17876033 GRCh37 Chromosome 5, 176830570: 176830570
31 F12; SLC34A1 NM_000505.3(F12): c.1251-7C> T single nucleotide variant Likely benign rs375340260 GRCh38 Chromosome 5, 177403624: 177403624
32 F12; SLC34A1 NM_000505.3(F12): c.1251-7C> T single nucleotide variant Likely benign rs375340260 GRCh37 Chromosome 5, 176830625: 176830625
33 F12 NM_000505.3(F12): c.1025C> T (p.Pro342Leu) single nucleotide variant Likely benign rs2230939 GRCh37 Chromosome 5, 176831085: 176831085
34 F12 NM_000505.3(F12): c.1025C> T (p.Pro342Leu) single nucleotide variant Likely benign rs2230939 GRCh38 Chromosome 5, 177404084: 177404084
35 F12 NM_000505.3(F12): c.1018+13G> C single nucleotide variant Likely benign rs552424629 GRCh37 Chromosome 5, 176831184: 176831184
36 F12 NM_000505.3(F12): c.1018+13G> C single nucleotide variant Likely benign rs552424629 GRCh38 Chromosome 5, 177404183: 177404183
37 F12 NM_000505.3(F12): c.756C> T (p.Ala252=) single nucleotide variant Benign rs41309752 GRCh37 Chromosome 5, 176831544: 176831544
38 F12 NM_000505.3(F12): c.756C> T (p.Ala252=) single nucleotide variant Benign rs41309752 GRCh38 Chromosome 5, 177404543: 177404543
39 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh38 Chromosome 5, 177398068: 177398068
40 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh37 Chromosome 5, 176825069: 176825069
41 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh38 Chromosome 5, 177398465: 177398465
42 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh37 Chromosome 5, 176825466: 176825466
43 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh38 Chromosome 5, 177398771: 177398771
44 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh37 Chromosome 5, 176825772: 176825772
45 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh38 Chromosome 5, 177403526: 177403526
46 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh37 Chromosome 5, 176830527: 176830527
47 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh38 Chromosome 5, 177403596: 177403596
48 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh37 Chromosome 5, 176830597: 176830597
49 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh37 Chromosome 5, 176830630: 176830630
50 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh38 Chromosome 5, 177403629: 177403629

Expression for Hereditary Angioedema

Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for Hereditary Angioedema

Pathways related to Hereditary Angioedema according to KEGG:

38
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 C1S C4B MASP2
2
Show member pathways
11.76 F12 KLKB1 KNG1 SERPING1
3
Show member pathways
11.58 C1S C4B MASP2 SERPING1
4
Show member pathways
11.51 ACE BDKRB2 KNG1
5 11.46 C1S C4B SERPING1
6 11.38 C1S C4B MASP2
7 11.37 BDKRB2 C1S C4B F12 KLKB1 KNG1
8
Show member pathways
11.28 C1S C4B MASP2 SERPING1
9 11.19 F12 KLKB1 SERPING1
10 11.16 F12 KLKB1

GO Terms for Hereditary Angioedema

Cellular components related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 ACE C4B F12 KLKB1 KNG1 MASP2
2 extracellular region GO:0005576 9.56 ACE C1S C4B F12 KLKB1 KNG1
3 blood microparticle GO:0072562 9.46 C1S C4B KNG1 SERPING1
4 platelet alpha granule lumen GO:0031093 9.32 KNG1 SERPING1
5 extracellular space GO:0005615 9.23 ACE C1S C4B F12 KLKB1 KNG1

Biological processes related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.83 C1S C4B F12 MASP2 SERPING1
2 inflammatory response GO:0006954 9.8 BDKRB2 C4B KLKB1 KNG1
3 negative regulation of endopeptidase activity GO:0010951 9.72 C4B KNG1 SERPING1
4 blood coagulation GO:0007596 9.71 F12 KLKB1 KNG1 SERPING1
5 regulation of complement activation GO:0030449 9.69 C1S C4B SERPING1
6 complement activation GO:0006956 9.65 C1S C4B MASP2
7 proteolysis GO:0006508 9.63 ACE C1S C4B F12 KLKB1 MASP2
8 complement activation, classical pathway GO:0006958 9.62 C1S C4B MASP2 SERPING1
9 blood circulation GO:0008015 9.58 BDKRB2 SERPING1
10 arachidonic acid secretion GO:0050482 9.58 ACE BDKRB2
11 regulation of vasoconstriction GO:0019229 9.57 ACE BDKRB2
12 vasodilation GO:0042311 9.56 BDKRB2 KNG1
13 zymogen activation GO:0031638 9.54 F12 KLKB1
14 regulation of blood coagulation GO:0030193 9.52 F12 SERPING1
15 positive regulation of fibrinolysis GO:0051919 9.46 F12 KLKB1
16 fibrinolysis GO:0042730 9.43 F12 KLKB1 SERPING1
17 Factor XII activation GO:0002542 9.37 F12 KLKB1
18 hemostasis GO:0007599 9.26 F12 KLKB1 KNG1 SERPING1
19 blood coagulation, intrinsic pathway GO:0007597 8.92 F12 KLKB1 KNG1 SERPING1

Molecular functions related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.65 ACE C1S F12 KLKB1 MASP2
2 peptidase activity GO:0008233 9.55 ACE C1S F12 KLKB1 MASP2
3 serine-type peptidase activity GO:0008236 9.26 C1S F12 KLKB1 MASP2
4 serine-type endopeptidase activity GO:0004252 9.02 C1S C4B F12 KLKB1 MASP2

Sources for Hereditary Angioedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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